Incidental Mutation 'R8808:Gbp9'
| ID |
672207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| MMRRC Submission |
068644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8808 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105232875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 259
(F259S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000031238]
[ENSMUST00000100961]
|
| AlphaFold |
Q8BTS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031235
|
| SMART Domains |
Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
213 |
5.4e-91 |
PFAM |
|
Pfam:GBP_C
|
206 |
493 |
1e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031238
AA Change: F259S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: F259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
1.2e-117 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100961
AA Change: F259S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: F259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
3.8e-124 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (60/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,775,874 (GRCm39) |
P1688S |
probably benign |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,919 (GRCm39) |
T174A |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,395,068 (GRCm39) |
L340Q |
probably damaging |
Het |
| Adra1d |
T |
C |
2: 131,403,397 (GRCm39) |
E231G |
probably damaging |
Het |
| Agt |
T |
A |
8: 125,291,028 (GRCm39) |
D93V |
probably benign |
Het |
| Als2cl |
G |
T |
9: 110,718,282 (GRCm39) |
R341L |
possibly damaging |
Het |
| Ankrd63 |
G |
T |
2: 118,533,549 (GRCm39) |
A124E |
unknown |
Het |
| Aqp8 |
T |
C |
7: 123,065,922 (GRCm39) |
L239P |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,593,336 (GRCm39) |
E85G |
probably damaging |
Het |
| Cacng4 |
T |
A |
11: 107,685,209 (GRCm39) |
I28F |
possibly damaging |
Het |
| Cc2d1a |
T |
C |
8: 84,861,599 (GRCm39) |
D741G |
probably damaging |
Het |
| Cct8l1 |
T |
A |
5: 25,722,210 (GRCm39) |
N308K |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
T |
A |
9: 54,905,348 (GRCm39) |
D53E |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,835,514 (GRCm39) |
|
probably null |
Het |
| Disp2 |
A |
G |
2: 118,620,489 (GRCm39) |
Y407C |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,008,771 (GRCm39) |
M2001T |
probably benign |
Het |
| Dysf |
C |
G |
6: 83,996,466 (GRCm39) |
|
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,816,264 (GRCm39) |
K187N |
probably damaging |
Het |
| Ethe1 |
T |
C |
7: 24,294,496 (GRCm39) |
S100P |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,842,604 (GRCm39) |
I1213M |
possibly damaging |
Het |
| Heatr5b |
G |
A |
17: 79,072,834 (GRCm39) |
H1610Y |
possibly damaging |
Het |
| Hk2 |
T |
A |
6: 82,705,747 (GRCm39) |
D852V |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,531,570 (GRCm39) |
Q3233L |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,046,791 (GRCm39) |
V2369E |
probably benign |
Het |
| Il9 |
C |
A |
13: 56,629,942 (GRCm39) |
E35* |
probably null |
Het |
| Itga8 |
A |
T |
2: 12,137,328 (GRCm39) |
C933* |
probably null |
Het |
| Jak3 |
A |
G |
8: 72,138,164 (GRCm39) |
K872E |
possibly damaging |
Het |
| Kcnmb2 |
A |
C |
3: 32,252,266 (GRCm39) |
M156L |
probably benign |
Het |
| Kdm4a |
C |
T |
4: 117,999,480 (GRCm39) |
V981I |
unknown |
Het |
| Klhl38 |
A |
T |
15: 58,178,225 (GRCm39) |
*582R |
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,751,866 (GRCm39) |
F495S |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,440,443 (GRCm39) |
W634R |
probably damaging |
Het |
| Mrpl4 |
T |
A |
9: 20,918,978 (GRCm39) |
Y202N |
possibly damaging |
Het |
| Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
| Or4k36 |
A |
T |
2: 111,146,239 (GRCm39) |
R138S |
possibly damaging |
Het |
| Or8k33 |
G |
A |
2: 86,384,297 (GRCm39) |
T57M |
probably damaging |
Het |
| Pcdhgb6 |
A |
G |
18: 37,876,451 (GRCm39) |
I386M |
possibly damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,162,356 (GRCm39) |
V1062E |
possibly damaging |
Het |
| Plekhm3 |
G |
A |
1: 64,922,355 (GRCm39) |
R607W |
possibly damaging |
Het |
| Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
| Prap1 |
C |
A |
7: 139,676,982 (GRCm39) |
H141Q |
probably damaging |
Het |
| Prep |
T |
A |
10: 44,971,252 (GRCm39) |
Y187* |
probably null |
Het |
| Rergl |
T |
G |
6: 139,478,865 (GRCm39) |
E3A |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,242,021 (GRCm39) |
S673T |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| St18 |
G |
A |
1: 6,880,826 (GRCm39) |
E440K |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,309,074 (GRCm39) |
Q645L |
probably damaging |
Het |
| Tmcc1 |
C |
A |
6: 116,111,099 (GRCm39) |
V61L |
|
Het |
| Tmcc1 |
A |
T |
6: 116,111,098 (GRCm39) |
V61E |
|
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tmem201 |
C |
A |
4: 149,814,138 (GRCm39) |
R154L |
possibly damaging |
Het |
| Tmem71 |
G |
A |
15: 66,410,655 (GRCm39) |
A239V |
possibly damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,284,275 (GRCm39) |
W78R |
probably damaging |
Het |
| Tssc4 |
T |
C |
7: 142,623,436 (GRCm39) |
V22A |
unknown |
Het |
| Ttn |
T |
A |
2: 76,723,128 (GRCm39) |
E6496D |
unknown |
Het |
| Ttn |
T |
A |
2: 76,697,539 (GRCm39) |
L227F |
|
Het |
| Vps50 |
G |
T |
6: 3,522,338 (GRCm39) |
G169* |
probably null |
Het |
| Yy1 |
CGGCGACCACGGCGGCGGCGGGGGCG |
CGGCG |
12: 108,759,506 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,361,185 (GRCm39) |
K1703R |
probably benign |
Het |
| Zfp616 |
T |
G |
11: 73,976,523 (GRCm39) |
C931G |
probably damaging |
Het |
| Zfp949 |
G |
A |
9: 88,451,417 (GRCm39) |
C329Y |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,822,887 (GRCm39) |
D452E |
probably benign |
Het |
|
| Other mutations in Gbp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Gbp9
|
APN |
5 |
105,229,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00419:Gbp9
|
APN |
5 |
105,241,943 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00425:Gbp9
|
APN |
5 |
105,253,620 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00597:Gbp9
|
APN |
5 |
105,242,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01362:Gbp9
|
APN |
5 |
105,228,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01679:Gbp9
|
APN |
5 |
105,233,038 (GRCm39) |
splice site |
probably null |
|
|
IGL01803:Gbp9
|
APN |
5 |
105,232,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01803:Gbp9
|
APN |
5 |
105,242,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02054:Gbp9
|
APN |
5 |
105,230,673 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02474:Gbp9
|
APN |
5 |
105,242,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL02633:Gbp9
|
APN |
5 |
105,231,431 (GRCm39) |
splice site |
probably benign |
|
|
IGL02666:Gbp9
|
APN |
5 |
105,242,141 (GRCm39) |
splice site |
probably null |
|
|
IGL02689:Gbp9
|
APN |
5 |
105,253,662 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02812:Gbp9
|
APN |
5 |
105,231,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03132:Gbp9
|
APN |
5 |
105,232,819 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03274:Gbp9
|
APN |
5 |
105,230,652 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0410:Gbp9
|
UTSW |
5 |
105,232,939 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1018:Gbp9
|
UTSW |
5 |
105,228,126 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1479:Gbp9
|
UTSW |
5 |
105,241,930 (GRCm39) |
splice site |
probably benign |
|
|
R1655:Gbp9
|
UTSW |
5 |
105,229,558 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1658:Gbp9
|
UTSW |
5 |
105,242,334 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1757:Gbp9
|
UTSW |
5 |
105,242,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Gbp9
|
UTSW |
5 |
105,229,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1986:Gbp9
|
UTSW |
5 |
105,253,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1986:Gbp9
|
UTSW |
5 |
105,253,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Gbp9
|
UTSW |
5 |
105,242,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2302:Gbp9
|
UTSW |
5 |
105,241,958 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2378:Gbp9
|
UTSW |
5 |
105,228,042 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2997:Gbp9
|
UTSW |
5 |
105,230,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3745:Gbp9
|
UTSW |
5 |
105,253,724 (GRCm39) |
start gained |
probably benign |
|
|
R4182:Gbp9
|
UTSW |
5 |
105,231,461 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4485:Gbp9
|
UTSW |
5 |
105,231,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4718:Gbp9
|
UTSW |
5 |
105,231,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Gbp9
|
UTSW |
5 |
105,233,028 (GRCm39) |
missense |
probably benign |
|
|
R5099:Gbp9
|
UTSW |
5 |
105,242,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Gbp9
|
UTSW |
5 |
105,228,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5199:Gbp9
|
UTSW |
5 |
105,231,678 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5712:Gbp9
|
UTSW |
5 |
105,242,421 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5751:Gbp9
|
UTSW |
5 |
105,229,124 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5895:Gbp9
|
UTSW |
5 |
105,230,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Gbp9
|
UTSW |
5 |
105,231,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6646:Gbp9
|
UTSW |
5 |
105,230,769 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7559:Gbp9
|
UTSW |
5 |
105,232,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Gbp9
|
UTSW |
5 |
105,251,745 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8042:Gbp9
|
UTSW |
5 |
105,242,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8288:Gbp9
|
UTSW |
5 |
105,253,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Gbp9
|
UTSW |
5 |
105,229,171 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8354:Gbp9
|
UTSW |
5 |
105,242,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8395:Gbp9
|
UTSW |
5 |
105,228,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Gbp9
|
UTSW |
5 |
105,231,464 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8751:Gbp9
|
UTSW |
5 |
105,229,117 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9105:Gbp9
|
UTSW |
5 |
105,241,942 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9116:Gbp9
|
UTSW |
5 |
105,231,695 (GRCm39) |
missense |
|
|
|
R9354:Gbp9
|
UTSW |
5 |
105,232,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9513:Gbp9
|
UTSW |
5 |
105,229,091 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9709:Gbp9
|
UTSW |
5 |
105,231,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9717:Gbp9
|
UTSW |
5 |
105,253,587 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Gbp9
|
UTSW |
5 |
105,241,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTACATGTATAGTACCATTGTG -3'
(R):5'- CTGTGCTAAGACTCCAGTTGTTTTG -3'
Sequencing Primer
(F):5'- GCAAACTCACTATTCCCG -3'
(R):5'- AAGACTCCAGTTGTTTTGTGTTTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation